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Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Published in:
2009
By:
- Faiyaz-Ul-Haque, Muhammad;
- Al-Owain, Mohammed;
- Al-Dayel, Fouad;
- Al-Hassnan, Zuhair;
- Al-Zaidan, Hamad;
- Rahbeeni, Zuhair;
- Al-Sayed, Moeen;
- Balobaid, Ameera;
- Cluntun, Ahmad;
- Toulimat, Mohamed;
- Abalkhail, Hala;
- Peltekova, Iskra;
- Zaidi, Syed H. E.
Publication type:
journal article
Prognostic factors and prenatal management in non immune hydrops fetalis are still a dilemma.
Published in:
Journal of Perinatal Medicine, 1996, v. 24, n. 5, p. 461
By:
- Rejjal, Abdellatif R. A.;
- Rahbeeni, Zuhair;
- Al-Zahrani, Afaf-Farouk
Publication type:
Article
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Published in:
Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3
By:
- Shamseldin, Hanan E.;
- Sadagopan, Mukunth;
- Martini, Javier;
- Al-Ali, Ruslan;
- Radefeldt, Mandy;
- Ataei, Mojgan;
- Lemke, Sabrina;
- Rahbeeni, Zuhair;
- Al Mutairi, Fuad;
- Ababneh, Faroug;
- AlRukban, Hadeel A.;
- Abdulwahab, Firdous;
- Alhajj, Saleh Mohammed;
- Bauer, Peter;
- Bertoli-Avella, Aida;
- Alkuraya, Fowzan S.
Publication type:
Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 853, doi. 10.1007/s00439-021-02340-w
By:
- Thorpe, Ryan K.;
- Azaiez, Hela;
- Wu, Peina;
- Wang, Qiuju;
- Xu, Lei;
- Dai, Pu;
- Yang, Tao;
- Schaefer, G. Bradley;
- Peters, B. Robert;
- Chan, Kenny H.;
- Schatz, Krista S.;
- Bodurtha, Joann;
- Robin, Nathaniel H.;
- Hirsch, Yoel;
- Rahbeeni, Zuhair Abdalla;
- Yuan, Huijun;
- Smith, Richard J. H.
Publication type:
Article
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
By:
- Al-Hamed, Mohamed H.;
- Kurdi, Wesam;
- Khan, Rubina;
- Tulbah, Maha;
- AlNemer, Maha;
- AlSahan, Nada;
- AlMugbel, Maisoon;
- Rafiullah, Rafiullah;
- Assoum, Mirna;
- Monies, Dorota;
- Shah, Zeeshan;
- Rahbeeni, Zuhair;
- Derar, Nada;
- Hakami, Fahad;
- Almutairi, Gawaher;
- AlOtaibi, Afaf;
- Ali, Wafaa;
- AlShammasi, Amal;
- AlMubarak, Wardah;
- AlDawoud, Samia
Publication type:
Article
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.
Published in:
Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/6143050
By:
- Al-Qattan, Mohammad M.;
- Rahbeeni, Zuhair A.;
- Al-Hassnan, Zuhair N.;
- Jarman, Abdulaziz;
- Rafique, Atif;
- Mahabbat, Nehal;
- Alsufayan, Faris A. S.
Publication type:
Article
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2932, doi. 10.1002/ajmg.a.62894
By:
- Altassan, Ruqaiah;
- Qudair, Ahmad;
- Alokaili, Riyadh;
- Alhasan, Khalid;
- Faqeih, Eissa A.;
- Alhashem, Amal;
- Alowain, Muhammed;
- Alsayed, Moeanaldeen;
- Rahbeeni, Zuhair;
- Albadi, Lama;
- Alkuraya, Fowzan S.;
- Anderson, Eric N.;
- Rajan, Deepa;
- Pandey, Udai Bhan
Publication type:
Article
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 513, doi. 10.1002/ajmg.a.61450
By:
- Mendelsohn, Bryce A.;
- Beleford, Daniah T.;
- Abu‐El‐Haija, Aya;
- Alsaleh, Norah S.;
- Rahbeeni, Zuhair;
- Martin, Pierre‐Marie;
- Rego, Shannon;
- Huang, Alyssa;
- Capodanno, Gina;
- Shieh, Joseph T.;
- Van Ziffle, Jessica;
- Risch, Neil;
- Alkuraya, Fowzan S.;
- Slavotinek, Anne M.
Publication type:
Article
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 687, doi. 10.1002/ajmg.a.38599
By:
- Bakshi, Nasir A.;
- Al‐Anzi, Talal;
- Mohamed, Said Y.;
- Rahbeeni, Zuhair;
- AlSayed, Moeen;
- Al‐Owain, Mohammed;
- Sulaiman, Raashda A.
Publication type:
Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
By:
- Alrakaf, Laila;
- Al‐Owain, Mohammed A.;
- Busehail, Maryam;
- Alotaibi, Maha A.;
- Monies, Dorota;
- Aldhalaan, Hesham M.;
- Alhashem, Amal;
- Al‐Hassnan, Zuhair N.;
- Rahbeeni, Zuhair A.;
- Murshedi, Fathiya Al;
- Ani, Nadia Al;
- Al‐Maawali, Almundher;
- Ibrahim, Niema A.;
- Abdulwahab, Firdous M.;
- Alsagob, Maysoon;
- Hashem, Mais O.;
- Ramadan, Wafaa;
- Abouelhoda, Mohamed;
- Meyer, Brian F.;
- Kaya, Namik
Publication type:
Article
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Published in:
Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8
By:
- Monies, Dorota;
- Abouelhoda, Mohamed;
- AlSayed, Moeenaldeen;
- Alhassnan, Zuhair;
- Alotaibi, Maha;
- Kayyali, Husam;
- Al-Owain, Mohammed;
- Shah, Ayaz;
- Rahbeeni, Zuhair;
- Al-Muhaizea, Mohammad;
- Alzaidan, Hamad;
- Cupler, Edward;
- Bohlega, Saeed;
- Faqeih, Eissa;
- Faden, Maha;
- Alyounes, Banan;
- Jaroudi, Dyala;
- Goljan, Ewa;
- Elbardisy, Hadeel;
- Akilan, Asma
Publication type:
Article
In search of triallelism in Bardet-Biedl syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
By:
- Abu-Safieh, Leen;
- Al-Anazi, Shamsa;
- Al-Abdi, Lama;
- Hashem, Mais;
- Alkuraya, Hisham;
- Alamr, Mushari;
- Sirelkhatim, Mugtaba O;
- Al-Hassnan, Zuhair;
- Alkuraya, Basim;
- Mohamed, Jawahir Y;
- Al-Salem, Ahmad;
- Alrashed, May;
- Faqeih, Eissa;
- Softah, Ameen;
- Al-Hashem, Amal;
- Wali, Sami;
- Rahbeeni, Zuhair;
- Alsayed, Moeen;
- Khan, Arif O;
- Al-Gazali, Lihadh
Publication type:
Article
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
Published in:
2017
By:
- Alfadhel, Majid;
- Al Othaim, Ali;
- Al Saif, Saif;
- Al Mutairi, Fuad;
- Alsayed, Moeenaldeen;
- Rahbeeni, Zuhair;
- Alzaidan, Hamad;
- Alowain, Mohammed;
- Al‐Hassnan, Zuhair;
- Saeedi, Mohamad;
- Aljohery, Saeed;
- Alasmari, Ali;
- Faqeih, Eissa;
- Alwakeel, Mansour;
- AlMashary, Maher;
- Almohameed, Sulaiman;
- Alzahrani, Mohammed;
- Migdad, Abeer;
- Al‐Dirbashi, Osama Y;
- Rashed, Mohamed
Publication type:
journal article
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.
Published in:
Biomedical Chromatography, 2005, v. 19, n. 3, p. 223, doi. 10.1002/bmc.439
By:
- Rashed, Mohamed S.;
- Saadallah, Amal A. A.;
- Rahbeeni, Zuhair;
- Eyaid, Wafaa;
- Seidahmed, Mohamed Z.;
- Al-Shahwan, Saad;
- Salih, Mustafa A. M.;
- Osman, Mohammad E.;
- Al-Amoudi, Mohamed;
- Al-Ahaidib, Lujane;
- Jacob, Minnie
Publication type:
Article
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Published in:
2021
By:
- Alfadhel, Majid;
- Nashabat, Marwan;
- Saleh, Mohammed;
- Elamin, Mohammed;
- Alfares, Ahmed;
- Al Othaim, Ali;
- Umair, Muhammad;
- Ahmed, Hind;
- Ababneh, Faroug;
- Al Mutairi, Fuad;
- Eyaid, Wafaa;
- Alswaid, Abdulrahman;
- Alohali, Lina;
- Faqeih, Eissa;
- Almannai, Mohammed;
- Aljeraisy, Majed;
- Albdah, Bayan;
- Hussein, Mohamed A.;
- Rahbeeni, Zuhair;
- Alasmari, Ali
Publication type:
journal article
A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis.
Published in:
Clinical Chemistry, 2021, v. 67, n. 6, p. 912, doi. 10.1093/clinchem/hvab016
By:
- AlFaris, Haya S.;
- Rahbeeni, Zuhair A.;
- Peake, Roy W. A.;
- Almontashiri, Naif A. M.
Publication type:
Article
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Published in:
Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
By:
- Shamseldin, Hanan E.;
- Tulbah, Maha;
- Kurdi, Wesam;
- Nemer, Maha;
- Alsahan, Nada;
- Mardawi, Elham Al;
- Khalifa, Ola;
- Hashem, Amal;
- Kurdi, Ahmed;
- Babay, Zainab;
- Bubshait, Dalal K.;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Rahbeeni, Zuhair;
- Hashem, Mais;
- Alkuraya, Fowzan S.
Publication type:
Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
By:
- AlAbdi, Lama;
- Rahbeeni, Zuhair;
- Maddirevula, Sateesh;
- Helaby, Rana;
- Abdulwahab, Firdous;
- Khan, Arif O.;
- Riley, Lisa G.;
- Alhashem, Amal;
- Chassaing, Nicolas;
- Jamieson, Robyn V.;
- Alkuraya, Fowzan S.
Publication type:
Article
Clinical and biochemical features associated with BCS1L mutation.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
By:
- Al-Owain, Mohammed;
- Colak, Dilek;
- Albakheet, Albandary;
- Al-Younes, Banan;
- Al-Humaidi, Zainab;
- Al-Sayed, Moeen;
- Al-Hindi, Hindi;
- Al-Sugair, Abdulaziz;
- Al-Muhaideb, Ahmed;
- Rahbeeni, Zuhair;
- Al-Sehli, Abdullah;
- Al-Fadhli, Fatima;
- Ozand, Pinar;
- Taylor, Robert;
- Kaya, Namik
Publication type:
Article
Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 263, doi. 10.1007/s10545-010-9143-1
By:
- Al‐Hassnan, Zuhair N.;
- Imtiaz, Faiqa;
- Al‐Amoudi, Mohamed;
- Rahbeeni, Zuhair;
- Al‐Sayed, Moeen;
- Al‐Owain, Mohammed;
- Al‐Zaidan, Hamad;
- Al‐Odaib, Ali;
- Rashed, Mohamed S.
Publication type:
Article
Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.
Published in:
Biomedical Chromatography, 2008, v. 22, n. 11, p. 1181, doi. 10.1002/bmc.1049
By:
- Al-Dirbashi, Osama Y.;
- Rashed, Mohamed S.;
- Jacob, Minnie;
- Al-Ahaideb, Lujane Y.;
- Al-Amoudi, Mohamed;
- Rahbeeni, Zuhair;
- Al-Sayed, Moeen M.;
- Al-Hassnan, Zuhair;
- Al-Owain, Mohamed;
- Al-Zeidan, Hamad
Publication type:
Article
Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. 352, doi. 10.1097/MPG.0000000000000627
By:
- Monies, Dorota M.;
- Rahbeeni, Zuhair;
- Abouelhoda, Mohamed;
- Naim, Ewa A.;
- Al-Younes, Banan;
- Meyer, Brian F.;
- Al-Mehaidib, Ali
Publication type:
Article
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.880464
By:
- Alfadhel, Majid;
- Abadel, Basma;
- Almaghthawi, Hind;
- Umair, Muhammad;
- Rahbeeni, Zuhair;
- Faqeih, Eissa;
- Almannai, Mohammed;
- Alasmari, Ali;
- Saleh, Mohammed;
- Eyaid, Wafaa;
- Alfares, Ahmed;
- Al Mutairi, Fuad
Publication type:
Article
Aortic calcification in Gaucher disease: a case report.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 107, doi. 10.2147/TACG.S180995
By:
- Alsahli, Saud;
- Bubshait, Dalal K;
- Rahbeeni, Zuhair A;
- Alfadhel, Majid
Publication type:
Article
A COVID-19 family cluster with retinitis pigmentosa and hypogammaglobulinemia.
Published in:
Annals of Thoracic Medicine, 2022, v. 17, n. 1, p. 66, doi. 10.4103/atm.atm_520_21
By:
- Alshukairi, Abeer;
- Aldabbagh, Yasser;
- Sayes, Najla;
- Al Gethamy, Manal;
- Alghamdi, Mohammed;
- Rahbeeni, Zuhair;
- Dada, Ashraf
Publication type:
Article
Molecular and clinical spectra of FBXL4 deficiency.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
By:
- El-Hattab, Ayman W.;
- Dai, Hongzheng;
- Almannai, Mohammed;
- Wang, Julia;
- Faqeih, Eissa A.;
- Al Asmari, Ali;
- Saleh, Mohammed A. M.;
- Elamin, Mohammed A. O.;
- Alfadhel, Majid;
- Alkuraya, Fowzan S.;
- Hashem, Mais;
- Aldosary, Mazhor S.;
- Almass, Rawan;
- Almutairi, Faten B.;
- Alsagob, Maysoon;
- Al-Owain, Mohammed;
- Al-Sharfa, Shirin;
- Al-Hassnan, Zuhair N.;
- Rahbeeni, Zuhair;
- Al-Muhaizea, Mohammed A.
Publication type:
Article
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome.
Published in:
Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2022.1044936
By:
- AlBakheet, Albandary;
- AlQudairy, Hanan;
- Alkhalifah, Joud;
- Almoaily, Sheikhah;
- Kaya, Namik;
- Rahbeeni, Zuhair
Publication type:
Article
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0267-5
By:
- Al-Hassnan, Zuhair N.;
- Shinwari, Zarghuna MA.;
- Wakil, Salma M.;
- Tulbah, Sahar;
- Mohammed, Shamayel;
- Rahbeeni, Zuhair;
- Alghamdi, Mohammed;
- Rababh, Monther;
- Colak, Dilek;
- Kaya, Namik;
- Al-Fayyadh, Majid;
- Alburaiki, Jehad
Publication type:
Article

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